question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Classify the chromosome 11 variant at position 108229315 affecting gene ATM (ATM serine/threonine kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATATGTATTTT... | TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATATGTATTTT... | pathogenic | 183,361 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108229323, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATATGTATTTTTTTTACAG... | TGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATATGTATTTTTTTTACAG... | pathogenic | 183,363 |
Does the chromosome 11 mutation at position 108229378 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATATGTATTTTTTTTACAGACAGTGATGTGTGTTCTGAAATTGTGAACCATGAGTCTAGTACTTAATGATCTGC... | AATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATATGTATTTTTTTTACAGACAGTGATGTGTGTTCTGAAATTGTGAACCATGAGTCTAGTACTTAATGATCTGC... | benign | 183,370 |
For chromosome 11, position 108235646, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CAGGCAACTTAGTTGTACTTTTAAGAAAGATTTGATCCCAGAAGTTTGAGACCAACCTGGGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGG... | CAGGCAACTTAGTTGTACTTTTAAGAAAGATTTGATCCCAGAAGTTTGAGACCAACCTGGGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGG... | benign | 183,372 |
Chromosome 11, position 108235650, gene ATM (ATM serine/threonine kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CAACTTAGTTGTACTTTTAAGAAAGATTTGATCCCAGAAGTTTGAGACCAACCTGGGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGA... | CAACTTAGTTGTACTTTTAAGAAAGATTTGATCCCAGAAGTTTGAGACCAACCTGGGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGA... | benign | 183,374 |
Located at chromosome 11 position 108235677, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast'] | TTGATCCCAGAAGTTTGAGACCAACCTGGGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGA... | TTGATCCCAGAAGTTTGAGACCAACCTGGGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGA... | pathogenic | 183,381 |
Variant on chromosome 11, at position 108235705, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTG... | GGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTG... | pathogenic | 183,389 |
Located at chromosome 11 position 108235705, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTG... | GGCAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTG... | pathogenic | 183,390 |
A mutation at chromosome position 108235707 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTA... | CAACATAGGGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTA... | pathogenic | 183,391 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108235715—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCA... | GGAGACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCA... | pathogenic | 183,395 |
Chromosome 11, position 108235718, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Breast_cancer,_susceptibility_to', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACA... | GACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACA... | pathogenic | 183,397 |
Mutation found at chromosome 11 position 108235719, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACAC... | ACCCCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACAC... | pathogenic | 183,399 |
Is the genetic change at chromosome 11, position 108235722, within gene ATM (ATM serine/threonine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAA... | CCATCTTTAAAAAAACTAAAAAAATTAGCTGAGTGTAGTGGTGCTTGCCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAA... | pathogenic | 183,401 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108235769, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | CCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTA... | CCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTA... | pathogenic | 183,411 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108235769 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTA... | CCTGTAGTCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTA... | pathogenic | 183,412 |
Mutation at chromosome 11, position 108235776, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGA... | TCCTAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGA... | pathogenic | 183,415 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108235779—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATA... | TAGCTACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATA... | pathogenic | 183,418 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108235783: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Familial_colorectal_cancer_type_X', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | TACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGA... | TACCTGGGAGGCTGACATGGGTAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGA... | pathogenic | 183,421 |
Does the genetic variant at chromosome 11, position 108235804, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGG... | TAGATCCCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGG... | pathogenic | 183,426 |
A genetic variant on chromosome 11, position 108235810, affects the gene ATM (ATM serine/threonine kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAA... | CCTTAAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAA... | pathogenic | 183,431 |
Does the chromosome 11 mutation at position 108235814 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCAT... | AAGTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCAT... | pathogenic | 183,432 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108235816, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCATAC... | GTCCAGGAGGTCAAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCATAC... | pathogenic | 183,433 |
Mutation at chromosome 11, position 108235828, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCATACAATGGATGTTTT... | AAGGCTGCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCATACAATGGATGTTTT... | pathogenic | 183,438 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108235847, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCATACAATGGATGTTTTAGATTAGAAAAATGTTACA... | ATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCATACAATGGATGTTTTAGATTAGAAAAATGTTACA... | benign | 183,447 |
Determine if the mutation at chromosome 11, position 108243934 in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AGACACAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATT... | AGACACAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATT... | benign | 183,457 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108243934, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | benign | AGACACAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATT... | AGACACAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATT... | benign | 183,458 |
Regarding the variant found on chromosome 11 at position 108243934 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AGACACAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATT... | AGACACAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATT... | benign | 183,459 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108243934, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | benign | AGACACAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATT... | AGACACAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATT... | benign | 183,460 |
Does the genetic variant at chromosome 11, position 108243939, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAG... | CAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAG... | benign | 183,462 |
Variant in gene ATM (ATM serine/threonine kinase), located at chromosome 11 position 108243962: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAAC... | TTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAAC... | pathogenic | 183,471 |
Is the genetic mutation found on chromosome 11 at position 108243984, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCA... | GTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCA... | pathogenic | 183,479 |
Determine whether the variant at chromosome 11, position 108243994, in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAA... | GTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAA... | pathogenic | 183,484 |
For chromosome 11, position 108244003, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACAT... | GCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACAT... | pathogenic | 183,486 |
Regarding the variant at chromosome 11 and position 108244017, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATC... | CTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATC... | pathogenic | 183,489 |
Variant at chromosome 11, position 108244030, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAG... | AGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAG... | pathogenic | 183,492 |
Clinically, how would you classify the variant at chromosome 11, position 108244058, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAG... | GTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAG... | pathogenic | 183,500 |
Evaluate this variant at chromosome 11, position 108244075, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCC... | GTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCC... | pathogenic | 183,505 |
Variant at chromosome position 108244089, chromosome 11, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCT... | TGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCT... | pathogenic | 183,507 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108244089: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCT... | TGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCT... | pathogenic | 183,509 |
Clinical significance of chromosome 11, position 108244096, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCTTTCATAA... | CTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCTTTCATAA... | pathogenic | 183,512 |
A mutation at chromosome position 108244119 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCTTTCATAAGACAAATTGGGAACAAGATAAGG... | CCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCTTTCATAAGACAAATTGGGAACAAGATAAGG... | benign | 183,521 |
Is the variant located on chromosome 11 at position 108244125, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCTTTCATAAGACAAATTGGGAACAAGATAAGGATGTGC... | AGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCTTTCATAAGACAAATTGGGAACAAGATAAGGATGTGC... | benign | 183,523 |
Clinical significance of chromosome 11, position 108244127, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCTTTCATAAGACAAATTGGGAACAAGATAAGGATGTGCAC... | TCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCTTTCATAAGACAAATTGGGAACAAGATAAGGATGTGCAC... | benign | 183,524 |
Is chromosome 11, position 108244633, gene ATM (ATM serine/threonine kinase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CACAGTGGCTTACACCTGTCATCTCAGCACTTTCGGAGGCTGAGGCAGGTGGATCATCTAAGGTCAGATGATGGCTTCCTCTAAAACAGGACAGATTTACTTGTAGCCTATTGATTATAAAAAGCTTGAGGTTTCTCTGTTATAACTCAGTCCACTGTTTTCGCAGTGTCAAGTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATG... | CACAGTGGCTTACACCTGTCATCTCAGCACTTTCGGAGGCTGAGGCAGGTGGATCATCTAAGGTCAGATGATGGCTTCCTCTAAAACAGGACAGATTTACTTGTAGCCTATTGATTATAAAAAGCTTGAGGTTTCTCTGTTATAACTCAGTCCACTGTTTTCGCAGTGTCAAGTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATG... | benign | 183,527 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome 11, position 108244789—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTTTTCGCAGTGTCAAGTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAA... | GTTTTCGCAGTGTCAAGTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAA... | pathogenic | 183,536 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108244789, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTTTTCGCAGTGTCAAGTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAA... | GTTTTCGCAGTGTCAAGTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAA... | pathogenic | 183,537 |
Clinically, how would you classify the variant at chromosome 11, position 108244804, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome'] | AGTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTG... | AGTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTG... | pathogenic | 183,541 |
Clinical significance of chromosome 11, position 108244805, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGG... | GTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGG... | pathogenic | 183,542 |
For chromosome 11, position 108244809, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGT... | CCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGT... | pathogenic | 183,547 |
Assess the variant on chromosome 11, position 108244811, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Cerebellar_ataxia', 'Conjunctival_telangiectasia', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Immunodeficiency', 'Oculomotor_apraxia'] | CATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGG... | CATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGG... | pathogenic | 183,548 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108244828 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGA... | GGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGA... | pathogenic | 183,555 |
Is the genetic mutation found on chromosome 11 at position 108244828, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast'] | GGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGA... | GGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGA... | pathogenic | 183,556 |
Does the genetic variant at chromosome 11, position 108244830, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACC... | TACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACC... | pathogenic | 183,558 |
Does the variant on chromosome 11 at location 108244831 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCC... | ACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCC... | pathogenic | 183,559 |
Classify the chromosome 11 variant at position 108244833 affecting gene ATM (ATM serine/threonine kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAG... | TGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAG... | pathogenic | 183,560 |
Considering the variant on chromosome 11, location 108244834, involving gene ATM (ATM serine/threonine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGC... | GGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGC... | pathogenic | 183,561 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108244841, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGG... | TGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGG... | pathogenic | 183,563 |
Variant at chromosome position 108244848, chromosome 11, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTA... | AAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTA... | pathogenic | 183,566 |
Is the chromosome 11, position 108244850 variant in ATM (ATM serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAG... | AATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAG... | pathogenic | 183,567 |
Chromosome 11, position 108244863, gene ATM (ATM serine/threonine kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTAC... | TGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTAC... | pathogenic | 183,571 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108244875, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTG... | TTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTG... | pathogenic | 183,578 |
Chromosome 11, position 108244877, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAG... | ACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAG... | pathogenic | 183,579 |
The chromosome 11, position 108244912 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCAC... | GGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCAC... | pathogenic | 183,586 |
The chromosome 11, position 108244946 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCT... | TGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCT... | pathogenic | 183,591 |
Considering the genetic mutation at chromosome 11, position 108244949, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAA... | CATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAA... | pathogenic | 183,593 |
For chromosome 11, position 108244979, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAA... | AAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAA... | pathogenic | 183,601 |
A genetic alteration at chromosome 11, position 108244988, in gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATAC... | CCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATAC... | pathogenic | 183,606 |
The genetic variant at chromosome 11, position 108244995, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCAT... | CAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCAT... | pathogenic | 183,608 |
Regarding the variant found on chromosome 11 at position 108245020 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCATAGGTCTCAACACATTTTTTGCATAT... | CACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCATAGGTCTCAACACATTTTTTGCATAT... | pathogenic | 183,617 |
The chromosome 11, position 108245020 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCATAGGTCTCAACACATTTTTTGCATAT... | CACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCATAGGTCTCAACACATTTTTTGCATAT... | pathogenic | 183,618 |
Mutation found at chromosome 11 position 108245025, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCATAGGTCTCAACACATTTTTTGCATATTATTA... | TGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCATAGGTCTCAACACATTTTTTGCATATTATTA... | pathogenic | 183,619 |
Is the chromosome 11, position 108245030 variant in ATM (ATM serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCATAGGTCTCAACACATTTTTTGCATATTATTAATCAA... | GGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCATAGGTCTCAACACATTTTTTGCATATTATTAATCAA... | benign | 183,624 |
Benign or pathogenic: chromosome 11, position 108246975, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CAACATAGGCTTAATGATTCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGG... | CAACATAGGCTTAATGATTCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGG... | pathogenic | 183,643 |
Is the genetic change at chromosome 11, position 108246979, within gene ATM (ATM serine/threonine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATAGGCTTAATGATTCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATT... | ATAGGCTTAATGATTCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATT... | pathogenic | 183,646 |
Benign or pathogenic: chromosome 11, position 108246990, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATTCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATAC... | GATTCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATAC... | pathogenic | 183,650 |
Is the genetic mutation found on chromosome 11 at position 108246992, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAA... | TTCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAA... | pathogenic | 183,652 |
Is the genetic mutation found on chromosome 11 at position 108247004, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGA... | AGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGA... | pathogenic | 183,655 |
Variant at chromosome 11, position 108247004, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGA... | AGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGA... | pathogenic | 183,656 |
A mutation at chromosome position 108247005 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGAC... | GTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGAC... | pathogenic | 183,658 |
Does the variant on chromosome 11 at location 108247006 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACA... | TCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACA... | pathogenic | 183,659 |
Assess the variant on chromosome 11, position 108247023, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGC... | CAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGC... | pathogenic | 183,665 |
Clinical classification of chromosome 11, position 108247030, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTAT... | AAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTAT... | pathogenic | 183,668 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108247031—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATG... | AATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATG... | pathogenic | 183,669 |
Clinical classification of chromosome 11, position 108247035, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATC... | TATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATC... | pathogenic | 183,670 |
Clinical significance of chromosome 11, position 108247036, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCA... | ATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCA... | pathogenic | 183,671 |
A mutation at chromosome position 108247051 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAA... | AAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAA... | pathogenic | 183,675 |
Located at chromosome 11 position 108247062, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACA... | ACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACA... | pathogenic | 183,679 |
Considering the genetic mutation at chromosome 11, position 108247077, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAA... | ATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAA... | pathogenic | 183,683 |
Is chromosome 11, position 108247085, gene ATM (ATM serine/threonine kinase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTT... | AATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTT... | pathogenic | 183,686 |
The genetic variant at chromosome 11, position 108247094, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGC... | TGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGC... | pathogenic | 183,689 |
Considering the genetic mutation at chromosome 11, position 108247105, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTT... | TGCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTT... | pathogenic | 183,694 |
Benign or pathogenic: chromosome 11, position 108247106, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTTT... | GCTTCTTCATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTTT... | pathogenic | 183,696 |
Clinical significance of chromosome 11, position 108247114, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTTTATCCACCT... | ATTCAAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTTTATCCACCT... | pathogenic | 183,698 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108247118—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTTTATCCACCTATTA... | AAACATAGAAGTCTAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTTTATCCACCTATTA... | pathogenic | 183,700 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108247131 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTTTATCCACCTATTACTTTTATTAGAAG... | TAAGTATAAAATTAGTGTTCTTTAGGAGGATATGACTTTCCTCTGGATTTCTCTGGTTGATAATGTTACTTAGCCATGAGAATGTTTTTCATAGAGTTTTTAGAATTTGAAGCAGTGGTAGCAGATTCTGTTATGCCTTTCTATTTGTTCAATACAATATTAGGTATTATGGGAAATACAAAAAAATCTGAGACATTGTTCCCTCTAGGAGCTACTTATGCATCAATACTTAGATACTAAGGGGTCTGACACAGACTGTAGGGCAAAAGAATTTAAAGAAAGCAGGATCTTGTTTATCCACCTATTACTTTTATTAGAAG... | benign | 183,705 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome 11, position 108248888—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | ATGGAAGGTTGGACCAGGTGTCTTCTAACGCTGATGCAGCTTGACAGCTGAATAATTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAA... | ATGGAAGGTTGGACCAGGTGTCTTCTAACGCTGATGCAGCTTGACAGCTGAATAATTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAA... | benign | 183,710 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108248888 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATGGAAGGTTGGACCAGGTGTCTTCTAACGCTGATGCAGCTTGACAGCTGAATAATTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAA... | ATGGAAGGTTGGACCAGGTGTCTTCTAACGCTGATGCAGCTTGACAGCTGAATAATTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAA... | benign | 183,711 |
Regarding the variant at chromosome 11 and position 108248924, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGCTTGACAGCTGAATAATTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTG... | CAGCTTGACAGCTGAATAATTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTG... | pathogenic | 183,717 |
Clinical classification of chromosome 11, position 108248938, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATAATTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCT... | AATAATTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCT... | pathogenic | 183,724 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108248943 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTT... | TTTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTT... | pathogenic | 183,727 |
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